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In a 55-year-old woman with a single sporadic adrenal pheochromocytoma (see 171300), Astuti et al. (2001) identified a heterozygous 1-bp deletion (725delC) in exon 6 of the SDHB gene in both blood and tumor tissue. The tumor DNA did not exhibit loss of heterozygosity for markers flanking SDHB. SDHB mutations were not identified in 23 other cases of sporadic pheochromocytomas.